Full data view for gene CARD11

Information The variants shown are described using the NM_032415.4 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-126+18G>A r.(=) p.(=) Unknown - likely benign g.3083283C>T g.3043649C>T CARD11(NM_001324281.2):c.-187+18G>A - CARD11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7+8G>A r.(=) p.(=) Unknown - likely benign g.2998126C>T - CARD11(NM_032415.6):c.7+8G>A - CARD11_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8-6T>C r.(=) p.(=) Unknown - likely benign g.2987427A>G - CARD11(NM_001324281.1):c.8-6T>C - CARD11_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.8-1G>A r.spl? p.? Unknown ACMG pathogenic g.2987422C>T - - - CARD11_000033 - PubMed: Mendonca 2021 - - Somatic - 0.048 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
+?/. - c.127A>C r.(?) p.(Thr43Pro) Unknown - likely pathogenic g.2987302T>G g.2947668T>G - - CARD11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140G>A r.(?) p.(Arg47His) Unknown - pathogenic g.2987289C>T - CARD11(NM_032415.6):c.140G>A (p.R47H), CARD11(NM_032415.7):c.140G>A (p.R47H) - CARD11_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140G>A r.(?) p.(Arg47His) Unknown - pathogenic g.2987289C>T - CARD11(NM_032415.6):c.140G>A (p.R47H), CARD11(NM_032415.7):c.140G>A (p.R47H) - CARD11_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.169G>A r.(?) p.(Glu57Lys) Unknown - likely pathogenic g.2987260C>T - CARD11(NM_032415.6):c.169G>A (p.E57K) - CARD11_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180G>T r.(?) p.(Val60=) Unknown - likely benign g.2987249C>A - CARD11(NM_032415.6):c.180G>T (p.V60=) - CARD11_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.225G>C r.(?) p.(Arg75=) Unknown - benign g.2985586C>G - - - CARD11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319A>T r.(?) p.(Thr107Ser) Unknown - VUS g.2985492T>A - - - CARD11_000026 - PubMed: Fliedner 2020, Journal: Fliedner 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.358+1G>C r.spl? p.? Unknown - likely pathogenic g.2985452C>G g.2945818C>G - - CARD11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.359-14C>T r.(=) p.(=) Unknown - likely benign g.2984185G>A g.2944551G>A CARD11(NM_001324281.2):c.359-14C>T - CARD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.367G>A r.(?) p.(Gly123Ser) Unknown - pathogenic g.2984163C>T g.2944529C>T - - CARD11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685-12G>C r.(=) p.(=) Unknown - likely benign g.2979574C>G - CARD11(NM_032415.6):c.685-12G>C - CARD11_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.694C>G r.(?) p.(Leu232Val) Unknown - VUS g.2979553G>C - - - CARD11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703C>T r.(?) p.(Arg235Trp) Unknown - likely benign g.2979544G>A - CARD11(NM_032415.7):c.703C>T (p.(Arg235Trp)) - CARD11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808G>C r.(?) p.(Glu270Gln) Unknown - VUS g.2979439C>G - - - CARD11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.864+1G>A r.spl? p.? Unknown ACMG pathogenic g.2979382C>T - - - CARD11_000030 - PubMed: Mendonca 2021 - - Somatic - 0.065 - - - DNA SEQ-NG-I blood/FFPE tumor gene panel RB1 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
-?/. - c.1017+16G>A r.(=) p.(=) Unknown - likely benign g.2978297C>T - CARD11(NM_001324281.2):c.1017+16G>A - CARD11_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1044G>A r.(?) p.(Glu348=) Unknown - likely benign g.2977640C>T - CARD11(NM_001324281.1):c.1044G>A (p.E348=) - CARD11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060C>T r.(?) p.(Leu354=) Unknown - likely benign g.2977624G>A g.2937990G>A CARD11(NM_001324281.1):c.1060C>T (p.L354=) - CARD11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1143+12A>C r.(=) p.(=) Unknown - likely benign g.2977529T>G - CARD11(NM_032415.6):c.1143+12A>C - CARD11_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1144-16C>T r.(=) p.(=) Unknown - likely benign g.2976884G>A - CARD11(NM_032415.6):c.1144-16C>T - CARD11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1245C>A r.(?) p.(Asp415Glu) Unknown - VUS g.2976767G>T g.2937133G>T CARD11(NM_001324281.1):c.1245C>A (p.D415E) - CARD11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1260G>A r.(?) p.(Glu420=) Unknown - likely benign g.2976752C>T - CARD11(NM_032415.6):c.1260G>A (p.E420=) - CARD11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1342-3C>T r.spl? p.? Unknown - likely benign g.2974266G>A g.2934632G>A CARD11(NM_032415.5):c.1342-3C>T - CARD11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1371C>T r.(?) p.(Ile457=) Unknown - likely benign g.2974234G>A - CARD11(NM_001324281.1):c.1371C>T (p.I457=) - CARD11_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1402A>G r.(?) p.(Arg468Gly) Unknown - VUS g.2974203T>C g.2934569T>C CARD11(NM_001324281.1):c.1402A>G (p.R468G) - CARD11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1522C>T r.(?) p.(Gln508*) Unknown ACMG pathogenic g.2972217G>A - - - CARD11_000028 - PubMed: Mendonca 2021 - - Somatic - 0.062 - - - DNA SEQ-NG-I blood/FFPE tumor gene panel RB1 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
-?/. - c.1630A>C r.(?) p.(Ile544Leu) Unknown - likely benign g.2969649T>G g.2930015T>G CARD11(NM_001324281.2):c.1630A>C (p.I544L), CARD11(NM_032415.5):c.1630A>C (p.I544L) - CARD11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1630A>C r.(?) p.(Ile544Leu) Unknown - likely benign g.2969649T>G - CARD11(NM_001324281.2):c.1630A>C (p.I544L), CARD11(NM_032415.5):c.1630A>C (p.I544L) - CARD11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1658C>T r.(?) p.(Pro553Leu) Unknown - likely benign g.2968328G>A - CARD11(NM_032415.6):c.1658C>T (p.P553L) - CARD11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1740C>A r.(?) p.(Asp580Glu) Unknown - likely benign g.2968246G>T g.2928612G>T CARD11(NM_001324281.1):c.1740C>A (p.D580E) - CARD11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1741G>A r.(?) p.(Ala581Thr) Unknown - benign g.2968245C>T g.2928611C>T CARD11(NM_001324281.1):c.1741G>A (p.A581T) - CARD11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1755-17del r.(=) p.(=) Unknown - likely benign g.2966442del g.2926808del CARD11(NM_032415.6):c.1755-17delT - CARD11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1923G>A r.(?) p.(Arg641=) Unknown - benign g.2963884C>T - CARD11(NM_032415.6):c.1923G>A (p.R641=) - CARD11_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1975G>A r.(?) p.(Val659Met) Unknown - likely benign g.2962933C>T - CARD11(NM_032415.6):c.1975G>A (p.V659M) - CARD11_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2060C>T r.(?) p.(Ala687Val) Unknown - likely benign g.2962848G>A g.2923214G>A CARD11(NM_001324281.1):c.2060C>T (p.A687V) - CARD11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2073C>T r.(?) p.(Phe691=) Unknown - likely benign g.2962835G>A - CARD11(NM_001324281.1):c.2073C>T (p.F691=) - CARD11_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2081C>T r.(?) p.(Ser694Leu) Unknown - VUS g.2962827G>A - CARD11(NM_032415.7):c.2081C>T (p.S694L) - CARD11_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2214G>A r.(?) p.(Trp738*) Unknown ACMG pathogenic g.2962323C>T - - - CARD11_000027 - PubMed: Mendonca 2021 - - Somatic - 0.04 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
-?/. - c.2270-4G>A r.spl? p.? Unknown - likely benign g.2959250C>T g.2919616C>T CARD11(NM_001324281.1):c.2270-4G>A - CARD11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2320G>C r.(?) p.(Asp774His) Unknown - VUS g.2959196C>G - CARD11(NM_032415.4):c.2320G>C (p.(Asp774His)) - CARD11_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2411G>A r.(?) p.(Arg804His) Unknown - VUS g.2959105C>T - CARD11(NM_032415.7):c.2411G>A (p.(Arg804His)) - CARD11_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2451G>A r.(?) p.(=) Unknown - likely benign g.2959065C>T - CARD11(NM_032415.6):c.2451G>A (p.A817=) - CARD11_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2475T>C r.(?) p.(His825=) Unknown - likely benign g.2959041A>G g.2919407A>G CARD11(NM_001324281.1):c.2475T>C (p.H825=) - CARD11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2542C>T r.(?) p.(Arg848Cys) Unknown - VUS g.2958190G>A g.2918556G>A CARD11(NM_001324281.1):c.2542C>T (p.R848C) - CARD11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2542C>T r.(?) p.(Arg848Cys) Unknown - VUS g.2958190G>A - CARD11(NM_001324281.1):c.2542C>T (p.R848C) - CARD11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2542C>T r.(?) p.(Arg848Cys) Unknown - likely pathogenic g.2958190G>A - CARD11(NM_001324281.1):c.2542C>T (p.R848C) - CARD11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2564G>A r.(?) p.(Arg855Gln) Unknown - VUS g.2958168C>T - CARD11(NM_032415.7):c.2564G>A (p.R855Q) - CARD11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2670G>A r.(?) p.(Ser890=) Unknown - likely benign g.2956957C>T - CARD11(NM_001324281.2):c.2670G>A (p.S890=) - CARD11_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2703+4A>G r.spl? p.? Unknown - likely benign g.2956920T>C - CARD11(NM_032415.6):c.2703+4A>G - CARD11_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2711G>A r.(?) p.(Ser904Asn) Unknown - VUS g.2954999C>T g.2915365C>T CARD11(NM_001324281.1):c.2711G>A (p.S904N) - CARD11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2748C>T r.(?) p.(Asn916=) Unknown - benign g.2954962G>A g.2915328G>A CARD11(NM_001324281.1):c.2748C>T (p.N916=) - CARD11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2748C>T r.(=) p.(=) Parent #1 - benign g.2954962G>A g.2915328G>A - - CARD11_000021 140 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61731201 Germline - 140/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 140 Mohammed Faruq
-/. - c.2748C>T r.(=) p.(=) Both (homozygous) - benign g.2954962G>A g.2915328G>A - - CARD11_000021 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61731201 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.2902G>A r.(?) p.(Ala968Thr) Unknown - likely benign g.2953038C>T g.2913404C>T CARD11(NM_001324281.1):c.2902G>A (p.A968T) - CARD11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2914G>A r.(?) p.(Glu972Lys) Unknown - VUS g.2953026C>T - CARD11(NM_032415.7):c.2914G>A (p.(Glu972Lys)) - CARD11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2924G>A r.(?) p.(Arg975Gln) Unknown - VUS g.2953016C>T - CARD11(NM_001324281.1):c.2924G>A (p.R975Q) - CARD11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2960C>A r.(?) p.(Thr987Lys) Unknown - VUS g.2952980G>T - CARD11(NM_001324281.1):c.2960C>A (p.T987K) - CARD11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3019+6C>T r.(=) p.(=) Unknown - likely benign g.2952915G>A g.2913281G>A CARD11(NM_001324281.1):c.3019+6C>T, CARD11(NM_032415.5):c.3019+6C>T - CARD11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3019+9C>T r.(=) p.(=) Unknown - VUS g.2952912G>A - CARD11(NM_001324281.1):c.3019+9C>T - CARD11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3019+10G>A r.(=) p.(=) Unknown - likely benign g.2952911C>T g.2913277C>T CARD11(NM_001324281.1):c.3019+10G>A - CARD11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3025G>A r.(?) p.(Val1009Ile) Unknown - likely benign g.2951925C>T - CARD11(NM_032415.6):c.3025G>A (p.V1009I) - CARD11_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3145-3C>T r.spl? p.? Unknown - VUS g.2949802G>A - CARD11(NM_032415.7):c.3145-3C>T - CARD11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3175G>A r.(?) p.(Gly1059Ser) Unknown - likely benign g.2949769C>T - CARD11(NM_001324281.1):c.3175G>A (p.G1059S) - CARD11_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3179G>A r.(?) p.(Cys1060Tyr) Unknown - VUS g.2949765C>T g.2910131C>T - - CARD11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3274C>T r.(?) p.(Arg1092*) Unknown - VUS g.2946463G>A - CARD11(NM_001324281.1):c.3274C>T (p.R1092*) - CARD11_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3399C>T r.(?) p.(Arg1133=) Unknown - likely benign g.2946338G>A - CARD11(NM_032415.6):c.3399C>T (p.R1133=) - CARD11_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3454G>A r.(?) p.(Asp1152Asn) Unknown - VUS g.2946283C>T g.2906649C>T CARD11(NM_001324281.1):c.3454G>A (p.D1152N) - CARD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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